Naegeli syndrome is a genetically caused disease. Naegeli syndrome is synonymously called Naegeli-Franceschetti-Jadassohn syndrome and is referred to by the abbreviation NFJ. Naegeli syndrome occurs exceedingly rarely in the general population. Basically, Naegeli syndrome is a disease of the skin characterized by pigmentary dermatosis of an anhidrotic reticular type. The disease term is derived from the dermatologist Naegeli.
What is Naegeli syndrome?
Naegeli syndrome represents a rare, hereditary disease of the skin. It belongs to a specific category of pigmentary dermatoses. Naegeli syndrome was first scientifically recorded and described in 1927. Naegeli, a dermatologist from Switzerland, played a central role in this, and the disease was later named after him. The physician identified Naegeli syndrome in a family. Both the father and the two daughters were affected by the skin disease, so Naegeli provided a comprehensive medical description. In 1954, the same family participated in another research study on Naegeli syndrome. Here, the physicians Franceschetti and Jadassohn were essentially involved. The two physicians found that in Naegeli syndrome there is an autosomal dominant mode of inheritance. In principle, Naegeli syndrome is one of the rarest of all diseases. According to the current state of research on the disease, Naegeli syndrome has only been diagnosed in five families and their subsequent generations. This shows an equal incidence of disease in female and male patients.
Causes
The triggers of Naegeli syndrome lie in the genes of the affected individuals. A specific genetic mutation on the 17th chromosome is responsible for the subsequent manifestation of Naegeli syndrome. The genetic defect is located exactly on the gene called KRT14, which is related to the substance keratin. Naegeli syndrome is inherited autosomal-dominantly to the offspring of affected individuals.
Symptoms, complaints, and signs
Specific changes and abnormalities of the skin are typical of Naegeli syndrome. For example, the complete absence of fingerprints is particularly characteristic of Naegeli syndrome. In addition, the skin surface on the whole body is characterized by a special hyperpigmentation. This reminds in its form of a net structure. However, this phenomenon increasingly recedes the older the persons suffering from Naegeli syndrome become. Another far-reaching symptom is the inability of affected individuals to excrete sweat from the body through the skin and sweat glands. Even when the air temperature is appropriately high, the affected patients are unable to sweat. This phenomenon is known in medicine as anhidrosis and is the most complicating symptom of Naegeli syndrome. In addition, affected individuals usually lose all their teeth. This tooth loss occurs in a majority of patients already in childhood or adolescence. In connection with this, anomalies in the so-called dentition of the patients can be observed. In addition, blisters develop on the skin of some diseased individuals. The nails of the toes may be deformed. However, all symptoms of Naegeli syndrome decrease with increasing age. Numerous symptoms of Naegeli syndrome have parallels to those of Bloch-Sulzberger syndrome, so an appropriate differential diagnosis is urgently needed.
Diagnosis and course of the disease
Diagnosis of Naegeli syndrome is performed by a specialist and, in view of the genetic causes as well as the rarity of the disease, usually takes place in a medical center. At the beginning, an anamnesis is necessary, during which the attending physician takes the patient’s medical history and analyzes the present symptoms. It is particularly important for the diagnosis of Naegeli syndrome to take a family history, as this quickly provides evidence of the existing disease. Following the initial patient interview, the specialist examines the sick person using clinical examination procedures. In addition to a general visual examination, the skin of the affected person is examined in particular. In many cases, the physician takes samples of specific areas of the skin and arranges for the tissue to be examined in the laboratory.The abnormalities of the dentition are usually examined by dentists and orthodontists. For this purpose, individuals affected by Naegeli syndrome usually undergo radiographic examination. To complete the diagnosis of Naegeli syndrome, a genetic analysis of the affected person’s DNA is usually performed. In this way, Naegeli syndrome can be identified with certainty. In addition, a differential diagnosis is required for Naegeli syndrome, whereby the physician differentiates the disease from, for example, epidermolysis bullosa simplex as well as dermatopathia pigmentosa reticularis. Bloch-Sulzberger syndrome should also be excluded.
Complications
Due to Naegeli syndrome, affected individuals suffer from various skin complaints in most cases. There is a complete absence of fingerprints, although there are usually no particular complications in everyday life for the affected person. Likewise, hyperpigmentation can occur, so that those affected are not infrequently ashamed of this symptom and feel uncomfortable with it. This can cause inferiority complexes that affect the quality of life. Similarly, those affected cannot sweat, so that the heat cannot be properly dissipated during physical exertion. This syndrome also often causes various complaints on the teeth, so that the affected persons lose their teeth completely. The skin can also develop blisters. In many cases, those affected suffer from bullying and also teasing, especially in childhood. Due to the loss of teeth, it is usually no longer possible for the patient to take normal food. Causal treatment of this condition is usually not possible. No particular complications occur during treatment of the symptoms themselves.
When should one go to the doctor?
When abnormalities of the skin as well as hyperpigmentation appear, this is a clear indication of a serious disease. A physician must determine whether this is Naegeli syndrome or another disease and initiate treatment if necessary. If other symptoms are noticed, such as a rapid deterioration of dental health or the development of skin blisters, the family doctor must be informed. Since Naegeli syndrome is a hereditary condition, diagnosis should be made in childhood. Parents who notice corresponding symptoms in their child are best advised to consult their family doctor or a specialist. Later in life, the child must be closely monitored by a doctor, as the disease is always associated with complications. Persons suffering from the disease themselves should arrange for a genetic test in case of pregnancy in order to obtain certainty about the child’s state of health. Treatment is provided by a dermatologist as well as internists, surgeons and specialists in the particular condition.
Treatment and therapy
Naegeli syndrome is genetic, so effective treatment for its causes is not practical. However, medical research is working on ways to prevent and treat hereditary diseases. Thus, all treatment measures of Naegeli syndrome are focused on the patients’ symptoms. In most cases the changes of the skin improve with increasing age of the persons. Tooth loss can be largely compensated by orthodontic measures and dentures.
Outlook and prognosis
The prognosis in Naegeli syndrome depends on the symptom pattern. Individual complaints such as anhidrosis and toenail deformities may cause discomfort over a prolonged period of time. Patients suffer from a reduced sense of well-being and often feel socially excluded due to their condition. As a result of the physical changes, inflammation can also occur, which further worsens the prognosis. After tooth loss, food intake is difficult and patients often develop deficiency symptoms or become dehydrated. As a result of the inflammatory skin diseases, itching or pain may occur. This is often accompanied by increased psychological stress for the patients because they are ostracized due to the external changes. Very rarely, chronic complaints can develop from the skin diseases. Eczema or fistulas are typical, which worsen the prospect of a complete recovery.The prognosis is accordingly difficult, since both the disease itself and the symptoms and their consequences reduce the quality of life. Life expectancy is not necessarily limited. The exact prognosis is determined by the medical professional in charge. Patients suffering from Naegeli syndrome must undergo comprehensive treatment to achieve a better prognosis.
Prevention
No options exist to prevent Naegeli syndrome. The disease is inherited autosomal-dominantly through parents to offspring, so some of the daughter generations will show Naegeli syndrome in the phenotype. In principle, however, the prognosis of Naegeli syndrome is positive, as the symptoms diminish with age.
Follow-up
In most cases, the affected person has very few and usually very limited aftercare measures available to him or her in Naegeli syndrome. For this reason, the affected person should see a physician at a very early stage so that the occurrence of other complications and symptoms can be prevented. Since this is a genetic disease, a complete cure is usually not achievable. Affected individuals should have genetic testing and counseling if they wish to have children in order to prevent the recurrence of the syndrome. In most cases, the affected persons themselves are dependent on taking various medications. It is always important to ensure that the medication is taken regularly and in the correct dosage in order to provide lasting relief from the symptoms. In the event of side effects or if anything is unclear, a doctor should be contacted first. Skin complaints can be alleviated relatively well with the help of special creams or ointments. Regular checks and examinations by a doctor are also necessary. As a rule, Naegeli syndrome does not reduce the patient’s life expectancy. Further measures of an aftercare are not available to the affected person in this case.
What you can do yourself
Because Naegeli syndrome is a genetic disorder, only symptomatic measures can be taken to treat the individual symptoms. Patients can take some measures themselves to support medical treatment. First of all, strict personal hygiene must be observed. Regular brushing can at least delay the loss of teeth. In addition, the health of the toes can be preserved by carefully cleaning them regularly and treating them with medical products. Which measures are useful here in detail, the doctor can answer with regard to the stage of the disease. At best, the visible skin changes can be counteracted by wearing concealing clothing. Treatment of hyperpigmentation is not possible, which is why the physician will recommend therapeutic counseling to prevent the development of psychological complaints. Affected individuals who are already suffering severely from the psychological effects of Naegeli’s syndrome should also consult a support group and talk to other affected individuals. Should blisters develop or other complications arise, further self-help measures should be refrained from. The physician must be informed so that medical treatment can be initiated expeditiously.
